Article
Sex-biased islet β cell dysfunction is caused by the MODY MAFA S64F variant by inducing premature aging and senescence in males.
Cell reports - 12 Oct 2021
Walker Emily M, Cha Jeeyeon, Tong Xin, Guo Min, Liu Jin-Hua, Yu Sophia, Iacovazzo Donato, Mauvais-Jarvis Franck, Flanagan Sarah E, Korbonits Márta, Stafford John, Jacobson David A, Stein Roland
Abstract excerpt
A heterozygous missense mutation of the islet β cell-enriched MAFA transcription factor (p.Ser64Phe [S64F]) is found in patients with adult-onset β cell dysfunction (diabetes or insulinomatosis), with men more prone to diabetes than women. This mutation engenders increased stability to the unstable MAFA protein. Here, we develop a S64F MafA mouse model to determine how β cell function is affected and find...
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